Korean J Anesthesiol Search


Korean Journal of Anesthesiology 2007;53(5):672-675.
DOI: https://doi.org/10.4097/kjae.2007.53.5.672   
An Anesthetic Experience in a Patient with Menkes Disease: A case report.
Helen Ki Shinn, Hong Sik Lee, Young Deog Cha, Jae Hak Lee, Hyun Zu Kim, Jang Ho Song
Department of Anesthesiology and Pain Medicine, College of Medicine, Inha University, Incheon, Korea. snoguy@freechal.com
Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting in copper deficiency. It is characterized by seizure, retarded neurological development, kinky hair, skeletal abnormality, recurrent infection and subnormal body temperature. In addition, gastroesophageal reflux with the risk of aspiration is another important feature. This article is the first report of anesthetic management in a patient with Menkes disease who underwent gastrostomy and bladder diverticulectomy in Korea.
Key Words: copper deficiency; copper-dependent enzyme; kinky hair disease; Menkes disease
Share :
Facebook Twitter Linked In Line it
METRICS Graph View
  • 0 Crossref
  • 1,367 View
  • 28 Download


Browse all articles >

Editorial Office
101-3503, Lotte Castle President, 109 Mapo-daero, Mapo-gu, Seoul 04146, Korea
Tel: +82-2-792-5128    Fax: +82-2-792-4089    E-mail: journal@anesthesia.or.kr                

Copyright © 2023 by Korean Society of Anesthesiologists.

Developed in M2PI

Close layer
prev next